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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BBS10
(H715R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
BBS10
(K708fs)
Indel
(frameshift variant)
not provided
GUncertain significance
BBS10
(Y613C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
BBS10
(N544S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
BBS10
(P539L)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
BBS10
Single nucleotide variant
(synonymous variant)
Bardet-Biedl syndrome 10
+2 more
GBenign
BBS10
(I504fs)
Microsatellite
(frameshift variant)
Bardet-Biedl syndrome 10
+2 more
GPathogenic
BBS10
(A479E)
Single nucleotide variant
(missense variant)
BBS10-related condition
+3 more
GConflicting classifications of pathogenicity
BBS10
(R422W)
Single nucleotide variant
(missense variant)
BBS10-related condition
+3 more
GUncertain significance
BBS10
(N364fs)
Deletion
not provided
+3 more
GPathogenic/Likely pathogenic
BBS10
(P363L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BBS10
(R343Q)
Single nucleotide variant
(missense variant)
BBS10-related condition
+4 more
GConflicting classifications of pathogenicity
BBS10
(S329L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BBS10
(M255I)
Single nucleotide variant
(missense variant)
BBS10-related condition
+4 more
GConflicting classifications of pathogenicity
BBS10
(V230fs)
Deletion
(frameshift variant)
BBS10-related condition
+3 more
GPathogenic
BBS10
Single nucleotide variant
(synonymous variant)
BBS10-related condition
+2 more
GConflicting classifications of pathogenicity
BBS10
(D142N)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
BBS10
Single nucleotide variant
(synonymous variant)
BBS10-related condition
+3 more
GConflicting classifications of pathogenicity
BBS10
(C91W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
BBS10
(C91fs)
Duplication
(frameshift variant)
BBS10-related condition
+6 more
GPathogenic
BBS10
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
BBS10
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
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